PGM3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	LOC129996748, LOC129996749 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 3085262	NM_015018.4(DOP1A):c.5981G>A (p.Arg1994Gln)	DOP1A, PGM3 (R1719Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085263	NM_015018.4(DOP1A):c.6004C>A (p.Pro2002Thr)	DOP1A, PGM3 (P1490T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513759	NM_015018.4(DOP1A):c.6023G>A (p.Gly2008Glu)	DOP1A, PGM3 (G1733E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085264	NM_015018.4(DOP1A):c.6074C>A (p.Thr2025Asn)	DOP1A, PGM3 (T2015N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547733	NM_015018.4(DOP1A):c.6088C>A (p.Pro2030Thr)	DOP1A, PGM3 (P2030T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085265	NM_015018.4(DOP1A):c.6127G>A (p.Glu2043Lys)	DOP1A, PGM3 (E1847K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656727	NM_015018.4(DOP1A):c.6130-8T>C	DOP1A, PGM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2480442	NM_015018.4(DOP1A):c.6379T>C (p.Cys2127Arg)	DOP1A, PGM3 (C1852R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570231	NM_015018.4(DOP1A):c.6395G>A (p.Arg2132Lys)	DOP1A, PGM3 (R1620K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482077	NM_015018.4(DOP1A):c.6455G>A (p.Arg2152His)	DOP1A, PGM3 (R1877H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085266	NM_015018.4(DOP1A):c.6790A>G (p.Ile2264Val)	DOP1A, PGM3 (I1752V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494847	NM_015018.4(DOP1A):c.6865T>C (p.Tyr2289His)	DOP1A, PGM3 (Y1777H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085267	NM_015018.4(DOP1A):c.6887A>G (p.Asn2296Ser)	DOP1A, PGM3 (N1784S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613216	NM_015018.4(DOP1A):c.6892T>C (p.Tyr2298His)	DOP1A, PGM3 (Y2298H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3049258	NM_015018.4(DOP1A):c.7093-1386A>C	DOP1A, PGM3	Single nucleotide variant (3 prime UTR variant +1 more)	PGM3-related disorder	GLikely benign
Select item 1175579	NM_015018.4(DOP1A):c.7093-1329_7093-1326del	DOP1A, PGM3	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1240948	NM_015018.4(DOP1A):c.7093-1295del	DOP1A, PGM3	Deletion (intron variant +1 more)	not provided	GBenign
Select item 1187946	NM_015018.4(DOP1A):c.7093-1118A>G	DOP1A, PGM3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2527672	NM_015018.4(DOP1A):c.7168G>A (p.Val2390Met)	DOP1A, PGM3 (V2381M +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2066454	NM_015599.3(PGM3):c.1626C>A (p.Phe542Leu)	DOP1A, PGM3 (F542L +2 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23	GUncertain significance
Select item 2730961	NM_015599.3(PGM3):c.1617A>G (p.Gln539=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 1983468	NM_015599.3(PGM3):c.1614C>G (p.Pro538=)	PGM3, DOP1A	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 252565	NM_015599.3(PGM3):c.1612C>A (p.Pro538Thr)	DOP1A, PGM3 (P566T +2 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23 +1 more	GUncertain significance
Select item 653071	NM_015599.3(PGM3):c.1610G>T (p.Arg537Met)	DOP1A, PGM3 (R537M +2 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23	GUncertain significance
Select item 1424663	NM_015599.3(PGM3):c.1601T>C (p.Ile534Thr)	DOP1A, PGM3 (I562T +2 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23	GUncertain significance
Select item 2787554	NM_015599.3(PGM3):c.1594G>A (p.Gly532Arg)	DOP1A, PGM3 (G532R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Immunodeficiency 23	GUncertain significance
Select item 568676	NM_015599.3(PGM3):c.1592C>T (p.Ala531Val)	DOP1A, PGM3 (A559V +2 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23	GUncertain significance
Select item 1083652	NM_015599.3(PGM3):c.1590G>A (p.Leu530=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2854157	NM_015599.3(PGM3):c.1587G>A (p.Gln529=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 834330	NM_015599.3(PGM3):c.1586A>C (p.Gln529Pro)	PGM3, DOP1A (Q529P +2 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23	GUncertain significance
Select item 2919133	NM_015599.3(PGM3):c.1585C>T (p.Gln529Ter)	DOP1A, PGM3 (Q529* +2 more)	Single nucleotide variant (nonsense +2 more)	Immunodeficiency 23	GUncertain significance
Select item 1558626	NM_015599.3(PGM3):c.1573T>C (p.Leu525=)	PGM3, DOP1A	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 1435968	NM_015599.3(PGM3):c.1566A>G (p.Glu522=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2798587	NM_015599.3(PGM3):c.1557T>C (p.Leu519=)	DOP1A, PGM3 (C440R)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 1347786	NM_015599.3(PGM3):c.1554C>A (p.His518Gln)	DOP1A, PGM3 (H518Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2855863	NM_015599.3(PGM3):c.1548A>G (p.Ala516=)	DOP1A, PGM3 (R437G)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2798177	NM_015599.3(PGM3):c.1545T>C (p.Ser515=)	DOP1A, PGM3 (C436R)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2149566	NM_015599.3(PGM3):c.1544G>A (p.Ser515Asn)	DOP1A, PGM3 (S543N +2 more)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 23	GLikely benign
Select item 2707173	NM_015599.3(PGM3):c.1540-4G>T	DOP1A, PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2821706	NM_015599.3(PGM3):c.1540-10T>C	DOP1A, PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2796095	NM_015599.3(PGM3):c.1540-16T>C	DOP1A, PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 1166767	NM_015599.3(PGM3):c.1539+19A>G	DOP1A, PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GBenign
Select item 2833911	NM_015599.3(PGM3):c.1539+17C>G	DOP1A, PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2983990	NM_015599.3(PGM3):c.1539+16T>G	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 1006641	NM_015599.3(PGM3):c.1539+6C>G	PGM3, DOP1A	Single nucleotide variant (non-coding transcript variant +2 more)	Immunodeficiency 23	GUncertain significance
Select item 2129972	NM_015599.3(PGM3):c.1539+4A>G	DOP1A, PGM3 (R434G)	Single nucleotide variant (non-coding transcript variant +2 more)	Immunodeficiency 23	GUncertain significance
Select item 1696177	NM_015599.3(PGM3):c.1539+2T>C	DOP1A, PGM3 (V433A)	Single nucleotide variant (non-coding transcript variant +2 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 2754868	NM_015599.3(PGM3):c.1527A>G (p.Glu509=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 3023731	NM_015599.3(PGM3):c.1518A>G (p.Val506=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 1056557	NM_015599.3(PGM3):c.1514G>T (p.Arg505Leu)	DOP1A, PGM3 (R424L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GUncertain significance
Select item 967853	NM_015599.3(PGM3):c.1514G>A (p.Arg505Gln)	PGM3, DOP1A (R505Q +3 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23 +1 more	GUncertain significance
Select item 1022643	NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter)	PGM3, DOP1A (R424* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2801507	NM_015599.3(PGM3):c.1512C>T (p.Val504=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 646876	NM_015599.3(PGM3):c.1510G>A (p.Val504Ile)	DOP1A, PGM3 (V532I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 423202	NM_015599.3(PGM3):c.1510G>T (p.Val504Phe)	PGM3, DOP1A (V532F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2741108	NM_015599.3(PGM3):c.1509C>T (p.Val503=)	PGM3, DOP1A	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2754869	NM_015599.3(PGM3):c.1506T>C (p.Asp502=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2693235	NM_015599.3(PGM3):c.1500AGA[1] (p.Glu501del)	DOP1A, PGM3 (E501del +3 more)	Microsatellite (inframe_deletion +1 more)	Immunodeficiency 23	GPathogenic
Select item 133321	NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr)	DOP1A, PGM3 (D502Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hyper-IgE syndrome +1 more	GPathogenic
Select item 133316	NM_015599.3(PGM3):c.1501G>C (p.Glu501Gln)	DOP1A, PGM3 (E529Q +3 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 1502277	NM_015599.3(PGM3):c.1487G>A (p.Arg496Gln)	DOP1A, PGM3 (R524Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GUncertain significance
Select item 2844534	NM_015599.3(PGM3):c.1485C>T (p.Val495=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2771825	NM_015599.3(PGM3):c.1474C>A (p.Arg492=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 505650	NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)	PGM3, DOP1A (R520* +3 more)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 23 +1 more	GPathogenic/Likely pathogenic
Select item 1138090	NM_015599.3(PGM3):c.1473T>C (p.Ser491=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 760535	NM_015599.3(PGM3):c.1467G>A (p.Lys489=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GBenign
Select item 944987	NM_015599.3(PGM3):c.1466A>G (p.Lys489Arg)	PGM3, DOP1A (K408R +3 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23 +1 more	GConflicting classifications of pathogenicity
Select item 475001	NM_015599.3(PGM3):c.1464C>T (p.Tyr488=)	PGM3, DOP1A	Single nucleotide variant (synonymous variant +1 more)	PGM3-related disorder +2 more	GBenign
Select item 1370589	NM_015599.3(PGM3):c.1461G>C (p.Lys487Asn)	DOP1A, PGM3 (K406N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GUncertain significance
Select item 961891	NM_015599.3(PGM3):c.1459A>G (p.Lys487Glu)	DOP1A, PGM3 (K446E +3 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23	GUncertain significance
Select item 2874488	NM_015599.3(PGM3):c.1450C>T (p.Leu484=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 1363911	NM_015599.3(PGM3):c.1448A>G (p.Asp483Gly)	DOP1A, PGM3 (D483G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GUncertain significance
Select item 2899787	NM_015599.3(PGM3):c.1415_1442dup (p.Asn482fs)	DOP1A, PGM3 (N441fs +3 more)	Duplication (frameshift variant +1 more)	Immunodeficiency 23	GPathogenic
Select item 1407501	NM_015599.3(PGM3):c.1438_1439delinsAA (p.Ala480Lys)	DOP1A, PGM3 (A439K +3 more)	Indel (missense variant +1 more)	Immunodeficiency 23	GUncertain significance
Select item 1361519	NM_015599.3(PGM3):c.1439C>T (p.Ala480Val)	DOP1A, PGM3 (A439V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GUncertain significance
Select item 2064658	NM_015599.3(PGM3):c.1435G>C (p.Glu479Gln)	DOP1A, PGM3 (E438Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GUncertain significance
Select item 1929387	NM_015599.3(PGM3):c.1432C>T (p.Gln478Ter)	DOP1A, PGM3 (Q506* +3 more)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 23	GPathogenic
Select item 1115203	NM_015599.3(PGM3):c.1422C>T (p.Pro474=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2865798	NM_015599.3(PGM3):c.1405A>C (p.Arg469=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2893402	NM_015599.3(PGM3):c.1398T>C (p.Asp466=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 681218	NM_015599.3(PGM3):c.1396G>A (p.Asp466Asn)	DOP1A, PGM3 (D425N +3 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23 +1 more	GBenign
Select item 798910	NM_015599.3(PGM3):c.1395C>T (p.Thr465=)	PGM3, DOP1A	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2788440	NM_015599.3(PGM3):c.1389C>T (p.Ser463=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2072198	NM_015599.3(PGM3):c.1381G>C (p.Val461Leu)	DOP1A, PGM3 (V420L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23 +1 more	GUncertain significance
Select item 2867318	NM_015599.3(PGM3):c.1377G>A (p.Arg459=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 1926107	NM_015599.3(PGM3):c.1374C>T (p.Asp458=)	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 2802225	NM_015599.3(PGM3):c.1371A>G (p.Ala457=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 23	GLikely benign
Select item 1498667	NM_015599.3(PGM3):c.1370C>T (p.Ala457Val)	DOP1A, PGM3 (A457V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 23	GUncertain significance
Select item 2443206	NM_015599.3(PGM3):c.1366-9T>C	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1294069	NM_015599.3(PGM3):c.1366-77G>A	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1272095	NM_015599.3(PGM3):c.1366-264_1366-263insAA	DOP1A, PGM3	Insertion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1239251	NM_015599.3(PGM3):c.1365+262_1365+263dup	PGM3	Duplication (intron variant)	not provided	GBenign
Select item 2846219	NM_015599.3(PGM3):c.1365+19_1365+23del	PGM3	Deletion (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2878435	NM_015599.3(PGM3):c.1365+20G>A	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 3007410	NM_015599.3(PGM3):c.1365+17A>T	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign
Select item 2984847	NM_015599.3(PGM3):c.1365+17A>G	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23	GLikely benign

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